Genome-wide SNP genotyping study using pooled DNA to identify candidate markers mediating susceptibility to end-stage renal disease attributed to Type 1 diabetes

Diabetic Medicine

Volumn 26, Issue 11, 2009, Pages 1090-1098

  Craig, D W ^a   Millis, M P ^a   Distefano, J K ^a  

^a TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

Author keywords

Carnosinase 1; End stage renal disease; Genome wide association study; GoKinD study; Microvascular complications; Type 1 diabetes

Indexed keywords

DNA;

ADULT; ARTICLE; BID GENE; CONTROLLED STUDY; DISEASE DURATION; DISEASE PREDISPOSITION; DNA DETERMINATION; FEMALE; GENE; GENE FREQUENCY; GENE LOCUS; GENOME; GENOTYPE; HUMAN; INSULIN RECEPTOR SUBSTRATE 2 GENE; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; DIABETES MELLITUS, TYPE 1; DIABETIC NEPHROPATHIES; DISEASE PROGRESSION; DNA; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70350774088     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2009.02846.x     Document Type: Article

References (32)

1. Jones CA, Krolewski AS, Rogus J, Xue JL, Collins A, Warram JH. Epidemic of end-stage renal disease in people with diabetes in the United States population: Do we know the cause? Kidney Int 2005 67 : 1684 1691.
2. USRDS. United States Renal Data System Annual Data Report: Atlas of End-Stage Renal Disease in the United States. Bethesda, MD : National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, 2002 : 296 322.
3. Hayden PS, Iyengar SK, Schelling JR, Sedor JR. Kidney disease, genotype and the pathogenesis of vasculopathy. Curr Opin Nephrol Hypertens 2003 12 : 71 78.
4. Gall MA, Rossing P, Skott P, Damsbo P, Vaag A, Bech K et al. Prevalence of micro- and macroalbuminuria, arterial hypertension, retinopathy and large vessel disease in European type 2 (non-insulin-dependent) diabetic patients. Diabetologia 1991 34 : 655 661.
5. Nelson RG, Kunzelman CL, Pettitt DJ, Saad MF, Bennett PH, Knowler WC. Albuminuria in type 2 (non-insulin-dependent) diabetes mellitus and impaired glucose tolerance in Pima Indians. Diabetologia 1989 32 : 870 876.
6. Pugh JA, Medina R, Ramirez M. Comparison of the course to end-stage renal disease of type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetic nephropathy. Diabetologia 1993 36 : 1094 1098.
7. Nelson RG, Newman JM, Knowler WC, Sievers ML, Kunzelman CL, Pettitt DJ et al. Incidence of end-stage renal disease in type 2 (non-insulin-dependent) diabetes mellitus in Pima Indians. Diabetologia 1988 31 : 730 736.
8. Ravid M, Brosh D, Ravid-Safran D, Levy Z, Rachmani R. Main risk factors for nephropathy in type 2 diabetes mellitus are plasma cholesterol levels, mean blood pressure, and hyperglycemia. Arch Intern Med 1998 158 : 998 1004.
9. Pettitt DJ, Saad MF, Bennett PH, Nelson RG, Knowler WC. Familial predisposition to renal disease in two generations of Pima Indians with type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia 1990 33 : 438 443.
10. Quinn M, Angelico MC, Warram JH, Krolewski AS. Familial factors determine the development of diabetic nephropathy in patients with IDDM. Diabetologia 1996 39 : 940 945.
11. Seaquist ER, Goetz FC, Rich S, Barbosa J. Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med 1989 320 : 1161 1165.
12. Hanson RL, Craig DW, Millis MP, Yeatts KA, Kobes S, Pearson JV et al. Identification of PVT1 as a candidate gene for end-stage renal disease in Type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study. Diabetes 2007 56 : 975 983.
13. Millis MP, Bowen D, Kingsley C, Watanabe RM, Wolford JK. Variants in the plasmacytoma variant translocation gene (PVT1) are associated with end-stage renal disease attributed to type 1 diabetes. Diabetes 2007 56 : 3027 3032.
14. Mueller PW, Rogus JJ, Cleary PA, Zhao Y, Smiles AM, Steffes MW et al. Genetics of Kidneys in Diabetes (GoKinD) study: a genetics collection available for identifying genetic susceptibility factors for diabetic nephropathy in type 1 diabetes. J Am Soc Nephrol 2006 17 : 1782 1790.
15. Pearson JV, Huentelman MJ, Halperin RF, Tembe WD, Melquist S, Homer N et al. Identification of the genetic basis for complex disorders by use of pooling-based genome-wide single-nucleotide-polymorphism association studies. Am J Hum Genet 2007 80 : 126 139.
16. Homer N, Szelinger S, Redman M, Duggan D, Tembe W, Muehling J et al. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet 2008 4 : e1000167.
17. Wolford JK, Yeatts KA, Red Eagle AR, Nelson RG, Knowler WC, Hanson RL. Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians. Diabet Med 2006 23 : 367 376.
18. Freedman BI, Hicks PJ, Sale MM, Pierson ED, Langefeld CD, Rich SS et al. A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans. Nephrol Dial Transplant 2007 22 : 1131 1135.
19. Janssen B, Hohenadel D, Brinkkoetter P, Peters V, Rind N, Fischer C et al. Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. Diabetes 2005 54 : 2320 2327.
20. Leak TS, Perlegas PS, Smith SG, Keene KL, Hicks PJ, Langefeld CD et al. Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in African Americans. Ann Hum Genet 2009 73 : 152 159.
21. Shimazaki A, Kawamura Y, Kanazawa A, Sekine A, Saito S, Tsunoda T et al. Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy. Diabetes 2005 54 : 1171 1178. (Pubitemid 40446333)
22. Beliakoff J, Lee J, Ueno H, Aiyer A, Weissman IL, Barsh GS et al. The PIAS-like protein Zimp10 is essential for embryonic viability and proper vascular development. Mol Cell Biol 2008 28 : 282 292.
23. Cappuzzello C, Melchionna R, Mangoni A, Tripodi G, Ferrari P, Torielli L et al. Role of rat alpha adducin in angiogenesis: null effect of the F316Y polymorphism. Cardiovasc Res 2007 75 : 608 617.
24. Li X, Thyssen G, Beliakoff J, Sun Z. The novel PIAS-like protein hZimp10 enhances Smad transcriptional activity. J Biol Chem 2006 281 : 23748 23756.
25. Hishikawa K, Marumo T, Miura S, Nakanishi A, Matsuzaki Y, Shibata K et al. Musculin/MyoR is expressed in kidney side population cells and can regulate their function. J Cell Biol 2005 169 : 921 928.
26. Thirone AC, Huang C, Klip A. Tissue-specific roles of IRS proteins in insulin signaling and glucose transport. Trends Endocrinol Metab 2006 17 : 72 78.
27. Wang K, Yin XM, Chao DT, Milliman CL, Korsmeyer SJ. BID: a novel BH3 domain-only death agonist. Genes Dev 1996 10 : 2859 2869.
28. Berger R, Theodor L, Shoham J, Gokkel E, Brok-Simoni F, Avraham KB et al. The characterization and localization of the mouse thymopoietin/lamina- associated polypeptide 2 gene and its alternatively spliced products. Genome Res 1996 6 : 361 370.
29. Desrosiers MP, Kielczewska A, Loredo-Osti JC, Adam SG, Makrigiannis AP, Lemieux S et al. Epistasis between mouse Klra and major histocompatibility complex class I loci is associated with a new mechanism of natural killer cell-mediated innate resistance to cytomegalovirus infection. Nat Genet 2005 37 : 593 599.
30. Pezzolesi MG, Poznik GD, Mychaleckyj JC, Paterson AD, Barati MT, Klein JB et al. Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. Diabetes 2009 58 : 1403 1410.
31. Wanic K, Placha G, Dunn J, Smiles A, Warram JH, Krolewski AS. Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as a cause of diabetic nephropathy in type 1 diabetes: results of large case-control and follow-up studies. Diabetes 2008 57 : 2547 2551.
32. Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet 2008 40 : 838 840.